L20M (p.Leu20Met) variant of SDHD (O14521)
L20M (p.Leu20Met) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
L20M (p.Leu20Met) variant details
- p.Leu20Met
- rs1298878168
- ClinGen CA382616911
- ClinVar RCV002563854
- gnomAD rs1298878168
- Uncertain significance
- Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural h
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 0.13
- MetaLR 0.62
- MetaSVM -0.11
- PolyPhen-2 0.47
- SIFT 0.07
- MutPred 0.45
- ClinVar: Uncertain significance (Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)